著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
HO YY,Glut-1 deficiency syndrome : autosomal dominant transmission of the R126C missense mutation,Ann Neurol,,,2001,50,,S125,https://cir.nii.ac.jp/crid/1572543024825831040,